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Cerebral hemorrhages in CADASIL: report of four cases and a brief review.
[cadasil]
Cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
is
an
inherited
cerebral
small
vessel
disease
,
clinically
characterized
by
migraine
,
recurrent
transient
ischemic
attacks
or
strokes
,
psychiatric
disorders
and
cognitive
decline
.
Strokes
are
typically
ischemic
,
while
hemorrhagic
events
have
been
only
sporadically
described
.
However
,
cerebral
microbleeds
have
been
found
in
31
-
69
%
of
CADASIL
patients
.
We
describe
four
unrelated
CADASIL
patients
who
had
hemorrhagic
strokes
.
We
also
briefly
review
the
literature
on
intracerebral
hemorrhage
(
ICH
)
in
CADASIL
.
Three
patients
had
a
thalamo-capsular
hemorrhage
(
age
at
onset
:
54
,
67
,
77
)
and
one
of
these
had
a
second
hemispheric
cerebellar
hemorrhage
.
Another
patient
experienced
an
interpeduncular
cistern
subarachnoid
hemorrhage
when
he
was
39
.
None
of
these
patients
was
receiving
antiplatelets
,
anticoagulants
or
statins
at
the
time
of
hemorrhage
;
all
were
hypertensive
.
NOTCH
3
gene
analysis
revealed
mutations
on
exons
14
,
22
(
two
patients
presenting
the
same
mutation
)
,
and
24
.
MRI
signs
of
previous
hemorrhages
were
present
in
all
these
patients
.
Hemorrhagic
stroke
can
occur
in
CADASIL
similarly
to
sporadic
cerebral
small
vessel
diseases
;
this
finding
expands
the
phenotype
of
the
disease
.
A
diagnosis
of
CADASIL
should
probably
be
considered
also
in
patients
with
ICH
.
These
data
bear
potential
implications
in
terms
of
need
of
better
control
of
risk
factors
,
particularly
hypertension
,
and
raise
relevant
questions
about
the
use
of
antiplatelets
as
prevention
measures
in
CADASIL
patients
.
Diseases
Validation
Diseases presenting
"hypertension"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
aniridia
aromatase deficiency
cadasil
child syndrome
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cushing syndrome
cystinuria
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
fabry disease
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kallmann syndrome
kindler syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
pendred syndrome
primary effusion lymphoma
scrub typhus
severe combined immunodeficiency
sneddon syndrome
typhoid
von hippel-lindau disease
well-differentiated liposarcoma
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated